"Provincial Medical Genetics Program of British Columbia, University o - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459555	NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)	CHD7 (R1810*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 488803	NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter)	CHD7 (Q2067*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GPathogenic
Select item 158320	NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)	CHD7 (R2631* +1 more)	Single nucleotide variant (nonsense)	CHD7-related condition +2 more	GPathogenic

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